Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
BARDET-BIEDL SYNDROME 2/6, DIGENIC
|
disease |
|
Finding
|
2
|
5
|
0.100 |
None |
|
0 |
2
|
|
|
BARDET-BIEDL SYNDROME 1/2, DIGENIC
|
disease |
|
Finding
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Melanocortin 4 Receptor Deficiency
|
phenotype |
|
Finding
|
24
|
28
|
0.100 |
None |
|
0 |
2
|
|
|
obsolete Rod-cone dystrophy
|
disease |
|
Disease or Syndrome
|
29
|
41
|
0.100 |
None |
|
0 |
1
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
1
|
|
|
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.100 |
None |
|
0 |
|
|
|
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.360 |
None |
1.000 |
6 |
|
2011 |
2019 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.030 |
None |
1.000 |
3 |
|
1999 |
2010 |
Congenital hypoplasia of penis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
237
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of ovary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Hirschsprung Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
384
|
162
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.420 |
None |
1.000 |
3 |
4
|
2015 |
2019 |
Ablepharon
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
20
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Autosomal recessive retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
82
|
31
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.110 |
None |
1.000 |
1 |
|
2001 |
2001 |
Bardet-Biedl Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
86
|
163
|
0.400 |
None |
0.976 |
82 |
20
|
1998 |
2019 |
Bardet-Biedl syndrome 2 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
53
|
0.910 |
None |
1.000 |
34 |
53
|
2001 |
2019 |
Bardet-Biedl syndrome 3
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
7
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Bardet-Biedl syndrome 1 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
20
|
65
|
0.300 |
strong |
|
0 |
|
|
|
Multicystic Dysplastic Kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
121
|
11
|
0.100 |
None |
|
0 |
|
|
|
Syndactyly of fingers
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
171
|
12
|
0.100 |
None |
|
0 |
|
|
|
Kaufman-McKusick syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
10
|
6
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
|
0 |
|
|
|